Article
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Molecular genetics & genomic medicine - 1 Dec 2022
Sadat Fatemi Seyedeh Helia, Eshraghi Peyman, Ghanei Mahmoud, Hamzehloei Tayebeh
Abstract excerpt
BACKGROUND: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are essential in the BH4 metabolism. This study aims to identify disease-causing variants in HPA patients, which may be helpful in genetic counseling and prenatal diagnosis. METHODS: A...
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